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36 Possible Causes for Muscle Hypotonia, Onset of Symptoms in First or Second Decade of Life, Psychomotor Retardation

  • Congenital Muscular Dystrophy

    The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth.[ncbi.nlm.nih.gov] We describe a 5-year-old girl with psychomotor retardation, ataxia, spasticity, muscle weakness and increased serum creatine kinase levels.[ncbi.nlm.nih.gov]

  • Tay-Sachs Disease

    Late-onset Tay-Sachs disease (chronic form) is a rare variant phenotype with appearance of first symptoms during the second or third decade of life. 4 A juvenile form is also[doi.org] At 6 to 10 months limp and floppy muscles (hypotonia). decreased alertness and playfulness. difficulty sitting up or rolling over loss of motor skills. decreased hearing and[radiopaedia.org] The patients was a 3-year-old boy with psychomotor retardation and attacked by seizures since 8 months of age. On funduscopy, the maculla presented a cherry-red spot.[ncbi.nlm.nih.gov]

  • Myoadenylate Deaminase Deficiency

    Childhood onset weakness, contractures, and early cardiac involvement. Symptoms usually develop in the first or second decade of life.[sites.google.com] We report a 6-month-old girl with the association of congenital muscle weakness and hypotonia, muscle deficiency of adenosine monophosphate… CONTINUE READING[semanticscholar.org] We report a 20-year-old man with gigantism syndrome, hypertrophic cardiomyopathy, muscle weakness, exercise intolerance, and severe psychomotor retardation since childhood[ncbi.nlm.nih.gov]

  • Congenital Muscular Dystrophy Type 1D

    The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] […] tone (hypotonia) and muscle weakness at birth.[rarediseases.org] retardation-progressive brain atrophy-basal ganglia disease syndrome Intermediate maple syrup urine disease Intermediate severe Salla disease Intermittent maple syrup urine[se-atlas.de]

  • Congenital Merosin-Positive Muscular Dystrophy

    The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] Three alpha-actinin-3-deficient patients had pure CMD and presented in the newborn period with muscle weakness, hypotonia and arthrogryposis.[ncbi.nlm.nih.gov] , microcephaly, delayed psychomotor development, generalized muscular wasting and weakness with mild facial involvement, calf pseudohypertrophy, joint contractures and areflexia[discovery.ucl.ac.uk]

  • Autosomal Dominant Mental Retardation Type 5

    Signs and Symptoms Individuals with KSS present initially in a similar way to those with typical CPEO. Onset is in the first and second decades of life.[findzebra.com] A condition (OMIM:614562) characterised by severe mental and psychomotor retardation, muscle hypotonia and poor expressive speech.[medical-dictionary.thefreedictionary.com] Neurological examination showed mild diffuse muscle hypotonia, hypotrophy, mild diffuse muscle weakness, joint laxity, scapular winging and increase of lumbar lordosis.[kundoc.com]

  • Pseudo-Zellweger Syndrome

    Similarly, the single patient with sterol carrier protein X (SCPX, now named SCP2) deficiency first experienced neurologic symptoms in the second decade of life ( Ferdinandusse[medlink.com] Newborns with D-bifunctional protein deficiency have weak muscle tone (hypotonia) and seizures. Most babies with this condition never acquire any developmental skills.[ghr.nlm.nih.gov] Migrational abnormalities are the most likely causes of the severe seizures and psychomotor retardation associated with many types of peroxisomal disorders.[repository.innermed.eu]

  • Glutaric Aciduria Type 2

    Although most patients become symptomatic within the first two decades, onset of symptoms ranges from the second month of life to late adulthood.[ojrd.biomedcentral.com] Children with GA1 may develop some floppiness or weakness in their muscles ( hypotonia ) during their first year and there's a risk of developing bleeding around their brain[nhs.uk] A subacute form begins during early childhood with vomiting, hypotonia, growth and psychomotor retardation.[pliem.co.za]

  • Limb-Girdle Muscular Dystrophy Type 1E

    The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] […] tone (hypotonia) and muscle weakness at birth.[rarediseases.org] retardation-progressive brain atrophy-basal ganglia disease syndrome Infantile systemic hyalinosis Infantile-onset X-linked spinal muscular atrophy Intellectual disability[se-atlas.de]

  • Centronuclear Myopathy Type 4

    Childhood onset weakness, contractures, and early cardiac involvement. Symptoms usually develop in the first or second decade of life.[sites.google.com] In affected males, first symptoms of the classical type usually started postnatally with severe weakness, muscle hypotonia, feeding difficulties, and respiratory failure.[thieme-connect.com] retardation syndrome Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Autosomal recessive cerebellar ataxia-saccadic intrusion[se-atlas.de]

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